Overview
Acid sphingomyelinase (ASM) (sphingomyelin phosphodiesterase; EC 3.1.4.12) deficiency is an inborn error of metabolism that leads to the accumulation of sphingomyelin in cells and tissues and causes the clinical condition known as Niemann-Pick disease. We report the case of an AB patient followed for Niemann Pick disease since childhood. She had an emergency caesarean section at 38 weeks for a post-traumatic retroplacental haematoma. Uterine atony controlled by medical treatment. Simple postoperative course. Since the discovery of the first Niemann Pick patients over a century ago, enormous progress has been made in deciphering the pathophysiology of this disease and in developing new treatments.
- | Author: Amina Mnejja
- | Publisher: Our Knowledge Publishing
- | Publication Date: Jul 31, 2024
- | Number of Pages: 52 pages
- | Binding: Paperback or Softback
- | ISBN-10: 6207848845
- | ISBN-13: 9786207848843
